Katariina Hannula-Jouppi
Helsinki, Finland
Last Updated: 09/26/2026
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Found 33 publications
In-depth human phenotype ontology curation boosts prioritization performance for Netherton syndrome (SPINK5-syndromic epidermal differentiation disorder).
Journal: The British journal of dermatology
Published: March 31, 2026
Consensus Recommendations for Management of Darier Disease: A Practical Approach.
Journal: Dermatology and therapy
Published: January 31, 2026
Management of Pain and Pruritus in Pediatric Recessive Dystrophic Epidermolysis Bullosa.
Journal: Clinical case reports
Published: August 28, 2025
The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features.
Journal: American journal of medical genetics. Part A
Published: July 10, 2025
DSP-palmoplantar epidermal differentiation disorder: a distinct phenotype and red flag for cardiomyopathy.
Journal: Clinical and experimental dermatology
Published: May 05, 2025
SERPINB8-associated peeling skin with palmoplantar keratoderma-A new variant and phenotypic expansion.
Journal: Journal of the European Academy of Dermatology and Venereology : JEADV
Published: April 26, 2025
Biologics in congenital ichthyosis: are they effective?
Journal: The British journal of dermatology
Published: July 26, 2024
A novel SERPINA12 variant and first European patients with diffuse palmoplantar keratoderma.
Journal: Journal of the European Academy of Dermatology and Venereology : JEADV
Published: March 05, 2023
DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma.
Journal: Frontiers in cardiovascular medicine
Published: December 23, 2022
Case report: A novel de novo IGF2 missense variant in a Finnish patient with Silver-Russell syndrome.
Journal: Frontiers in pediatrics
Published: August 10, 2022
The Role of Negative Pressure Wound Therapy (NPWT) in the Management of Vasculitic Wounds: Case Series of Eight Patients.
Journal: The international journal of lower extremity wounds
Published: December 08, 2021
A novel desmoplakin mutation causes dilated cardiomyopathy with palmoplantar keratoderma as an early clinical sign.
Journal: Journal of the European Academy of Dermatology and Venereology : JEADV
Published: November 16, 2021
Last Updated: 09/26/2026